Case Report
HJOG 2026, 25 (1), 76-81| doi: 10.33574/hjog.0618
Miguel Angel Chavez Martinez1, Kevin Ramos Nigenda2, Maria Guadalupe Chavez Martinez3, Alvaro Cabrera-Garcia4, Luis Cruz Benitez5, Omar Esteban Valencia-Ledezma6
1 Blood Bank Unit, Hospital Regional De Alta Especialidad De Ixtapaluca, México
2 Haematology Unit, Hospital Regional De Alta Especialidad De Ixtapaluca, México
3 Neonatology Unit, Ángeles del Pedregal Hospital, México
4 Haematology Unit, Hospital Regional De Alta Especialidad De Ixtapaluca, México
5 General Surgery Unit, Hospital Regional De Alta Especialidad De Ixtapaluca, México
6 Research Deputy Directorate Unit, Hospital Regional De Alta Especialidad De Ixtapaluca, México
Correspondence: Omar Esteban Valencia-Ledezma, Hospital Regional De Alta Especialidad De Ixtapaluca, México, 56530, Tel: +52 2222564813, e-mail: esteban84valencia@gmail.com
Abstract
Hereditary spherocytosis is a congenital haemolytic anaemia caused by defects in red blood cell membrane proteins, resulting in a spherical shape and increased splenic destruction. It is the most common hereditary haemolytic anaemia worldwide. Management becomes more complex during pregnancy due to increased physiological stress and haematological demands. We present the case of a 22-year-old woman diagnosed with HS since childhood, with a history of cholecystectomy and blood transfusions. In her second trimester, she presented with left upper quadrant pain, severe anaemia, and splenomegaly. She was admitted with tachycardia and chest pain, and active haemolysis was detected. Therapeutic red blood cell exchange was performed via apheresis, leading to clinical stabilisation and improved haematological parameters. A splenectomy was subsequently carried out. At term, the patient entered active labour and delivered vaginally without immediate neonatal complications. Postpartum, she experienced uterine atony unresponsive to medical management, which was successfully treated with a Bakri balloon. A urinary tract infection was also diagnosed and treated with antibiotics. The newborn developed jaundice and clinical signs suggestive of hereditary spherocytosis. This case highlights the importance of multidisciplinary management in pregnant patients with hereditary spherocytosis, where timely interventions such as therapeutic apheresis and splenectomy can significantly improve maternal and foetal outcomes. Close monitoring and comprehensive care are essential to prevent complications and achieve favourable results in pregnancies complicated by rare haematological conditions like hereditary spherocytosis.
Keywords: Spherocytosis, pregnancy, splenectomy, erythrocyte membrane, splenomegaly, blood component removal.
Introduction
Hereditary spherocytosis (HS), also known as Minkowski–Chauffard disease, is a familial haematological disorder predominantly inherited in an autosomal dominant pattern in approximately 75% of cases. It is characterised by a structural defect in red blood cell membranes due to deficiencies in membrane proteins, resulting in a spherical morphology.¹
HS is considered the most common hereditary haemolytic anaemia worldwide, affecting individuals regardless of ethnic or racial background. Nevertheless, higher prevalence rates have been reported in Northern Europe and North America, with an estimated incidence of 1 in 5,000 individuals.² One proposed pathophysiological mechanism involves a disruption between the lipid bilayer and the cytoskeletal network, leading to a decreased membrane surface area and the resultant spherocyte formation.³
This structural abnormality primarily affects the red blood cell cytoskeleton, particularly at the outer membrane, resulting in reduced mean corpuscular volume (MCV) and elevated mean corpuscular haemoglobin concentration (MCHC).⁴
Clinically, HS typically presents with anaemia, splenomegaly, jaundice, and a positive family history.⁵ Red blood cell transfusion may be indicated in symptomatic patients, particularly during infectious episodes, aplastic crises, or pregnancy.⁶
Although severe cases may demonstrate a more variable prognosis, most patients can achieve a good quality of life with appropriate management.⁷
Therapeutic apheresis is a procedure in which a patient’s blood is processed through an extracorporeal circuit to separate and remove specific components. It is employed for the elimination of pathological cellular or plasma elements, or for the supplementation of deficient blood components.⁸
Case Report
A 22-year-old female patient presented with a family history notable for type 2 diabetes mellitus in her mother and hereditary spherocytosis in her father. She had been diagnosed with hereditary spherocytosis at birth and had received medical treatment, which was discontinued in 2014. Her past surgical history included a cholecystectomy at the age of 11 and a blood transfusion five years prior.
During her second trimester of pregnancy, she experienced sharp pain localised to the left hypochondrium, rated 5/10 on the Visual Analogue Scale (VAS). An abdominal ultrasound performed two days after admission revealed splenomegaly (Figure 1).
Figure 1. Ultrasound image showing splenomegaly.
The haematology team was consulted due to the underlying diagnosis of hereditary spherocytosis. The patient had not received prior long-term follow-up or a management protocol, nor had a splenectomy been performed at the time of evaluation.
According to laboratory findings, the patient exhibited ongoing haemolysis, with a haemoglobin level of 7.3 g/dL and a mean corpuscular volume (MCV) of 98.8 fL. Additionally, lactate dehydrogenase (LDH) and indirect bilirubin were markedly elevated (3.94 mg/dL). The patient also presented with thrombocytopenia, attributed to hypersplenism and increased erythrocyte destruction secondary to splenomegaly.
Subsequently, the patient was admitted to the Department of Gynaecology and Obstetrics for therapeutic plasma exchange and transfusion of irradiated packed red blood cells. During hospitalisation, she developed tachycardia with a heart rate of 120 beats per minute, accompanied by oppressive, non-radiating retrosternal chest pain. Given the clinical suspicion of a further decline in haemoglobin levels, a complete blood count (CBC) was ordered, and the patient was transferred to the adult intensive care unit (ICU) for close monitoring.
A foetal assessment via ultrasound was performed, revealing a single live intrauterine foetus with a heart rate ranging from 183 to 187 bpm, displaying active and spontaneous movements. Foetal biometry showed the following parameters: biparietal diameter of 3.54 cm (corresponding to 16.6 weeks of gestation), head circumference of 12.77 cm (16.3 weeks), abdominal circumference of 10.08 cm (16.1 weeks), and femur length of 2.03 cm (16.0 weeks).
The estimated foetal weight was 146.26 grams. Ventricular asymmetry was noted, with prominence of the right lateral ventricle. The placenta was classified as Grade 0 according to the Grannum scale. No significant abnormalities were identified in the amniotic fluid or cervical assessment.
A splenectomy was subsequently performed by the general surgery team. Prior to surgery, the patient underwent red blood cell exchange using the Spectra Optia® apheresis system to optimise her clinical condition. This intervention resulted in stabilisation of haemodynamic parameters, as detailed in Table 1.
Some time later, the patient returned to the emergency department and was diagnosed with a term pregnancy at 40.1 weeks’ gestation, based on first-trimester ultrasound dating. She was in the active phase of labour and had a postoperative history of splenectomy due to hypersplenism, hereditary spherocytosis, thrombocytosis, and completed childbearing. She presented with colicky abdominal pain consistent with active labour. The foetal heart rate was within normal parameters.
Ultrasound evaluation confirmed a single live intrauterine foetus at 40.1 weeks of gestation, with an estimated weight of 3,119 grams. The placenta was posterior and fundal, classified as Grannum grade II. The amniotic fluid index (AFI) was measured at 11.2 cm. On physical examination, the uterine fundal height measured 32 cm. The cervix was fully effaced and dilated.
The patient was transferred to the delivery room, where she had a spontaneous vaginal delivery of a single liveborn infant in cephalic presentation without complications.
Postpartum, the patient remained clinically and haemodynamically stable, with vital signs within normal limits. Obstetrically, she experienced postpartum bleeding of approximately 450 mL and uterine atony unresponsive to standard medical management, including carbetocin, ergometrine, and calcium gluconate. Consequently, a Bakri balloon was inserted with 150 mL of saline solution, effectively controlling the uterine atony.
The patient maintained haemodynamic stability with normal vital parameters. As for the newborn, there was a history of neonatal jaundice and clinical findings suggestive of hereditary spherocytosis, indicating a 50% recurrence risk in future pregnancies.
The patient was discharged 24 hours after the procedure with the following regimen:
• Prophylactic antibiotics: Cephalexin 500 mg orally every 8 hours for 7 days.
• Analgesics: Ketorolac 10 mg orally every 8 hours for 3 days; Paracetamol 500 mg orally every 8 hours as needed for pain, for 3 days.
• Supplementation: Maternal multivitamins, one tablet daily for 6 months.
Discussion
Hereditary spherocytosis is an uncommon and underdiagnosed pathological condition.⁹ Cases of HS during pregnancy are scarce in the literature, which underscores the importance of reporting them. One key aspect of this case is the progression of the disease during pregnancy, manifested by severe anaemia and splenomegaly.⁹ Splenectomy is the treatment of choice in severe HS cases or when complications such as gallstone disease arise, although performing the procedure during pregnancy is uncommon and carries additional risks, as observed in this patient.¹⁰ The prevalence is higher in populations from Northern Europe but occurs across all ethnic groups.²
Hereditary spherocytosis during pregnancy poses a complex clinical challenge due to the physiological changes of gestation and the potential for exacerbated haemolysis.9 Although the literature on pregnant patients with HS is limited, several case reports and small case series offer valuable insights into varying management strategies and outcomes.
In our case, the patient developed severe anaemia and splenomegaly during the second trimester, requiring therapeutic red blood cell exchange and splenectomy. This approach is rarely described in the literature. For instance, Simona et al. (2017) reviewed surgical outcomes in pregnant HS patients and found that splenectomy was usually deferred until the postpartum period due to surgical risks. However, when conducted during pregnancy, it was generally restricted to the second trimester and preceded by transfusion or exchange therapy, mirroring our protocol.
A case reported by Paula et al. (2011) involved a pregnant woman with moderate HS who was managed conservatively with regular transfusions and iron supplementation. No surgical intervention was necessary, and the pregnancy progressed without significant maternal complications, though neonatal jaundice required phototherapy. Compared to our case, the absence of severe haemolysis allowed for a less invasive approach.
Garrote-Santana et al. (2012) discussed cases where patients with HS experienced aplastic crises during pregnancy due to parvovirus B19 infection. Unlike our patient, these cases required urgent transfusion without splenectomy. The maternal and fetal outcomes were favourable with close monitoring.
Additionally, Attie et al. (2012) highlighted the risk of thrombosis post-splenectomy and the importance of prophylactic anticoagulation—an intervention that was implemented in our case. The favourable evolution of our patient despite surgical intervention suggests that, under controlled conditions, splenectomy during pregnancy can be both safe and beneficial.
A noteworthy aspect of this case is the development of postpartum uterine atony, which proved unresponsive to first-line uterotonic agents and required mechanical intervention with a Bakri balloon. While multiple factors may contribute to uterine atony, a plausible hypothesis is that the patient’s chronic anaemia and the resulting prolonged tissue hypoxia may have compromised myometrial contractility at a cellular level.9 This pathophysiological mechanism has been suggested in isolated case reports but remains insufficiently studied in pregnant patients with hereditary haemolytic anaemias.9 Although this case supports the possibility of such a relationship, it should be interpreted with caution. Further prospective studies are warranted to explore whether chronic anaemia may be a contributing risk factor for uterine atony in similar clinical contexts.
In terms of prognosis, the patient showed a favourable evolution, with haemodynamic stability and progressive normalization of haematological values. In the analysed clinical case, the patient presented with a critically low haemoglobin level of 3.2 g/dL, which justified the use of red blood cell exchange as an immediate intervention. This procedure, performed through therapeutic apheresis, allowed the replacement of defective erythrocytes with healthy concentrates, improving tissue oxygenation and stabilising the patient prior to splenectomy.¹⁰ The benefits of this procedure include improved maternal-fetal oxygenation, reduction of haemolysis, preoperative preparation, prevention of obstetric complications, and successful pregnancy completion.
In terms of neonatal outcomes, the majority of cases, including ours, reported mild jaundice and evidence of inherited spherocytosis in the neonate, consistent with the autosomal dominant inheritance pattern.10 The need for neonatal monitoring and potential long-term follow-up remains essentia.
Therapeutic red blood cell exchange was selected over simple transfusion to optimise the patient’s clinical condition prior to splenectomy. Given the presence of severe haemolytic anaemia and active splenic destruction, a simple transfusion would have offered limited benefit, as transfused erythrocytes would be rapidly sequestered and destroyed.
Erythrocytapheresis, by contrast, allowed for the removal of defective spherocytes and simultaneous replacement with functional red cells. This not only improved oxygen delivery more effectively but also reduced haemolytic markers (e.g., LDH, bilirubin), helping stabilise the patient for surgery.7
In pregnancy, maternal oxygenation is vital for foetal wellbeing. Red cell exchange provided superior support compared to standard transfusion, with less risk of iron overload and better control of haemodynamic status. As reported in the literature, such preoperative use of therapeutic apheresis may reduce perioperative risks and improve both maternal and foetal outcomes. 8,10
When comparing our case with the existing literature, therapeutic apheresis followed by splenectomy during pregnancy is an uncommon but viable strategy for managing severe HS. Multidisciplinary coordination is crucial, and individualised risk-benefit assessments should guide intervention timing. Further studies and case compilations are needed to standardise protocols and optimise outcomes in this rare but clinically significant scenario.
Conclusion
Hereditary spherocytosis generally has a good prognosis with appropriate treatment and proper follow-up. Patients born with this condition who receive adequate monitoring, including care from the haematology department, tend to achieve a good quality of life. Those who choose not to continue medical management may develop complications and, in some cases, require surgery.
This case demonstrates that despite the severity of the disease and associated complications, timely, coordinated, and comprehensive management can lead to favourable outcomes for both mother and newborn. The aim is to report cases of this pathology to support better diagnosis and medical management, as well as the use of red blood cell exchange, with the goal of implementing these approaches in future pregnant patients to prevent complications and improve quality of life.
Conflict of Interest
The authors declare no conflict of interest.
Funding
No funding was received for this study.
Consent
Informed consent was obtained from the patient for publication of this case.
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